NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 7, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000590359.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)]

NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)

HGVS:

NC_000002.11:g.48033458_48033460dup
NC_000002.12:g.47806316AGA[3]
NG_007111.1:g.28170AGA[3]
NG_008397.1:g.104355TCT[3]
NM_000179.3:c.3759AGA[3]MANE SELECT
NM_001281492.2:c.3369AGA[3]
NM_001281493.2:c.2853AGA[3]
NM_001281494.2:c.2853AGA[3]
NP_000170.1:p.Glu1254dup
NP_001268421.1:p.Glu1124dup
NP_001268422.1:p.Glu952dup
NP_001268423.1:p.Glu952dup
LRG_219t1:c.3762_3764dup
LRG_219:g.28170AGA[3]
NC_000002.11:g.48033454_48033455insAGA
NC_000002.11:g.48033455AGA[3]
NC_000002.11:g.48033458_48033460dup
NM_000179.2:c.3762_3764dup
NM_000179.2:c.3762_3764dupAGA
NM_000179.3:c.3762_3764dupMANE SELECT

Links:

dbSNP: rs587779937

NCBI 1000 Genomes Browser:

rs587779937

Molecular consequence:

NM_000179.3:c.3759AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281492.2:c.3369AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281493.2:c.2853AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281494.2:c.2853AGA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000695886	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 7, 2015)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000695886

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 7, 2015)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695886.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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